Local Mom Fights for Son Diagnosed with Rare Disorder

[vc_row][vc_column][vc_custom_heading text=”Appreciating a Mother’s Strength and Her Newfound Hope” font_container=”tag:h3|text_align:left” use_theme_fonts=”yes”][vc_column_text]At just 16 months of age, Denver area mom Christine Tippett’s son, Cooper, was diagnosed with the rare and potentially life-threatening genetic condition known as Morquio A syndrome (MPS IV A). MPS IV A prohibits the body from producing an essential protein enzyme, causing buildup in tissues and bones, damaging organs all over the body except for the brain, ultimately leading to severe complications such as skeletal abnormalities, difficulty walking, trouble breathing, and short height. Cooper’s condition is found in approximately one in 250,000 people.

Fortunately for Cooper, he was diagnosed early on. As an infant, he presented with a bump on his back which Christine monitored, later seeking help from an orthopedic specialist. Measurements were taken and an MRI was ordered, at which time they found Cooper had severe kyphosis, which is a forward rounding of the back. In addition, the opening of his vertebrae for his spinal cord at the base of his neck was 40 percent smaller than it should have been, a condition known as Cervical Spinal Stenosis, which is defined as the narrowing of the spinal canal at the level of the neck. At the Children’s Hospital Metabolic and Genetic Disorders Department, Christine was told that Cooper had MPS IV A.

Just two weeks after Cooper’s diagnosis, the only treatment for this rare condition, previously in clinical trials, was approved by the FDA. The drug is called Vimizim, an enzyme replacement therapy given by weekly six-hour infusions.

Not only is Cooper the youngest person to be on this medication, which he will take for the rest of his life, but he is one of four people in Colorado with this condition. He had surgery to install a port so that it’s easier for him to receive injections, which take place at the hospital, so he can be monitored for any resulting reactions to the drug.

The news of Cooper’s diagnosis was terrifying for Christine.

“I felt like every dream I’d had for Cooper had been taken away,” said Christine. “I think any mom facing a diagnosis like this will realize she’s stronger than she knows. With an incredible support structure, I’ve come to terms with what Cooper will and won’t be able to do.”

Christine also encourages mothers to trust their gut instincts and use the Internet to connect with other people who face the same issues, as “it helps to talk to those who have been in your shoes, can give advice, and even lend a shoulder to cry on,” said Christine.

Cooper is now five years old, loves to play hockey in the house, and is thriving in Kindergarten. The other children understand that he has a “special neck” and not to rough-house with him, to avoid any spinal injuries.

Over the past four years, Christine has raised $30,000 for MPS medical research. She’s also in her second year of serving on the board for the National MPS Society which raises funds for studies, and she travels to Washington D.C. to raise awareness about the condition and secure rare disease funding for the National Institute of Health. Everything Christine earns is earmarked for research through the National MPS Society website.

“We don’t get the funding that other studies get, for things like Alzheimer’s and Cancer, so we need to work harder to increase awareness and raise funds,” added Christine.

National MPS Awareness Day is May 15th. To learn more about it, Cooper, and MPS, visit the following websites:

Caring bridge site: https://www.caringbridge.org/visit/coopertippett

The MPS Society: https://mpssociety.org/

Cooper’s Courage Page (fundraising): https://mpssociety.org/give/courage-pages/stories/cooper-tippett/[/vc_column_text][/vc_column][/vc_row]

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